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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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Guidelines
MIRAGE
medium chain acyl-CoA dehydrogenase deficiency
Summary
- Definition
- A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0080153
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11310 | Medium-chain specific acyl-CoA dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003198 | Myopathy |
| HP:0001987 | Hyperammonemia |
| HP:0004326 | Cachexia |
| HP:0001410 | Decreased liver function |
| HP:0003394 | Muscle spasm |
| HP:0002240 | Hepatomegaly |
| HP:0002181 | Cerebral edema |
| HP:0003234 | Decreased circulating carnitine concentration |
| HP:0001263 | Global developmental delay |
| HP:0003108 | Hyperglycinuria |
